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Newly ID’d Mutation in FKBP14 Gene Linked to Kyphoscoliotic EDS

A newly discovered mutation in the FKBP14 gene results in a misfolded protein that causes kyphoscoliotic Ehlers-Danlos Syndrome (kEDS), a rare subtype of this orphan disease marked by a spinal curvature that causes a hunched appearance. Work on a molecular characterization of this mutation...